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101156595

Funded outputs count: 34
Funder award ID: 101156595
OpenAlex ID: G6015422456
Characterizing sleep disturbances in developmental and epileptic encephalopathies through natural language processing: A retrospective monocentric study
2026 · Tommaso Lo Barco, Maxime Douillet, et al. · Epilepsia
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Phenotypes of ultra-rare variant carriers benchmark variant effect scores
2026 · Shubhankar Londhe, Eva Holtkamp, et al. · bioRxiv (Cold Spring Harbor Laboratory)
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Enhancing Interpretation of Functional Enrichment Analysis Results with Advanced Network Visualizations
2026 · Aishwarya Iyer, Friederike Ehrhart, et al. · Current Protocols
Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project
2026 · Jana Jezkova, Martin A. McClatchey, et al. · European Journal of Human Genetics
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A FAIR layer for the INHERENT haemoglobinopathy patient registry
2026 · Stella Tamana, Christina Yiangou, et al. · medRxiv
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A Neutral Comparison of Multivariate Hypothesis Tests for Parallel Group Designs in Rare Disease Settings
2026 · Martin Geroldinger, Martin Laimer, et al. · Statistics in Medicine · 1
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Integrative optical genome mapping and long-read sequencing resolve constitutional complex rearrangements at nucleotide resolution
2026 · Bruna Burssed, Bart van der Sanden, et al. · bioRxiv (Cold Spring Harbor Laboratory)
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Individualized antisense oligonucleotide treatment eligibility of patients living with neurodevelopmental diseases
2026 · Annemieke Aartsma-Rus, Claudio Melo de Gusmao, et al. · Cell Reports Medicine · 1
Benchmarking the impact of data leakage on the performance of knowledge graph embedding models for biomedical link prediction
2026 · Galadriel Brière, Thomas Stosskopf, et al. · Bioinformatics · 7
FAIR in practice: minimum metadata schema for bioinformatics analytics by machines
2026 · Daphne Wijnbergen, Núria Queralt-Rosinach, et al. · Journal of Biomedical Semantics
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Enhanced γ-globin reactivation and sickle cell correction through a repressor-to-activator motif switch in the HBG1/2 promoters
2026 · Anne Chalumeau, Panagiotis Antoniou, et al. · Molecular Therapy — Nucleic Acids · 4
HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
2026 · Bart van der Sanden, Christian Betz, et al. · The American Journal of Human Genetics · 1
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From Functional Genomics to Gene Therapy: GENEH & 21st CFGBC Scientific Symposium
2026 · Vesna Merc, Rodrigo Mateo Ortiz de la Morena
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Guidance on communication and informed consent with patients and their families for experimental individualized treatments
2026 · Annemieke Aartsma-Rus, Claudio M. de Gusmao, et al. · The American Journal of Human Genetics · 3
Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS
2026 · David Pellerin, Felix Heindl, et al. · Journal of Neurology · 1
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Protocol for a multi-modal performance-profiling workflow of CAR T cell products
2026 · Sarah Schulenberg, Michelle Loeser, et al. · STAR Protocols
Transcription-based identification of uncharacterized genes in the human immune response
2026 · Emil E. Vorsteveld, Simone Kersten, et al. · European Journal of Human Genetics · 2
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Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality
2026 · Francesca Magrinelli, Christelle Tesson, et al. · Nature Communications · 11
Transient prophylactic immunosuppression with abatacept or dasatinib prevents immune responses in AAV gene transfer
2026 · Rebecca Xicluna, Kentaro Yamada, et al. · Molecular Therapy · 2
Lipid nanoparticle mRNA delivery preserves CAR T cell cytotoxicity and limits exhaustion compared to electroporation
2026 · Samira Picht, Martí Farrera-Sal, et al. · Molecular Therapy — Nucleic Acids · 6
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CRISPR-Cas9-mediated upregulation of utrophin ameliorates Duchenne muscular dystrophy
2026 · Maëlle Ralu, Simon Guiraud, et al. · Molecular Therapy · 4
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Extracellular vesicles-mediated delivery of SpCas9 RNPs for therapeutic gene editing in Spinocerebellar Ataxia Type 3
2026 · Kevin Leandro, David Rufino-Ramos, et al. · Biomaterials · 1
Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force
2026 · Melissa A. Parisi, Adam L. Hartman, et al. · Therapeutic Advances in Rare Disease
Cognitive impairment in SCA3: A multi-center cohort study with demographic, imaging, and biomarker correlates
2026 · Roderick P.P.W.M. Maas, Hector Garcia-Moreno, et al. · Neurobiology of Disease · 1
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
2026 · Heba Morsy, Hyeonho Kim, et al. · The American Journal of Human Genetics · 2